Two Novel Missense Mutations and a 5bp Deletion in the Erythroid‐Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion‐Dependent Chronic Nonspherocytic Hemolytic Anemia |
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| Authors: | Leo Kager MD Milen Minkov MD PhD Petra Zeitlhofer PhD Bernhard Fahrner MD Franz Ratzinger MD Kaan Boztug MD Astrid Dossenbach‐Glaninger MD MBA Oskar A. Haas MD |
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| Affiliation: | 1. St. Anna Children's Hospital, Department of PediatricsMedical University Vienna;2. Children's Cancer Research Institute;3. Department of Pediatrics, Hospital Rudolfstiftung;4. medgen.at GmbH;5. Department of Laboratory MedicineMedical University Vienna;6. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences;7. Department of Laboratory Medicine, Hospital Rudolfstiftung, Vienna, Austria |
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| Abstract: | We report two children with severe chronic hemolytic anemia, the cause of which was difficult to establish because of transfusion dependency. Reduced erythrocyte pyruvate kinase activity in their asymptomatic parents provided the diagnostic clues for mutation screening of the PKLR gene and revealed that one child was a compound heterozygote of a novel paternally derived 5‐bp deletion in the promoter region (c.‐88_‐84delTCTCT) and a maternally derived missense mutation in exon nine (c.1174G>A; p.Ala392Thr). The second child was a compound heterozygote of two novel missense mutations, namely a paternally derived exon ten c.1381G>A (p.Glu461Lys) and a maternally derived exon seven c.907‐908delCC (p.Pro303GlyfsX12) variant. |
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| Keywords: | anemias hematology nonmalignant red blood cell disorders transfusion |
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